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ORPHA:90307Disease
What it is
A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. Lymphatic malformations may also be present.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Not applicable
- Classified as
- Disease
Signs and symptoms
Common30–79%
13- Arteriovenous fistula
- Bounding pulse
- Capillary malformation
- Dilatation
- Erythematous plaque
- Hemihypertrophy of lower limb
- High-output congestive heart failure
- Muscle hypertrophy of the lower extremities
- Peripheral arteriovenous fistula
- Prominent superficial blood vessels
- Varicose veins
- Vascular tortuosity
- Venous malformation
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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